MCID: APP015
MIFTS: 53

Apparent Mineralocorticoid Excess malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Nephrological diseases, Endocrine diseases categories

Aliases & Classifications for Apparent Mineralocorticoid Excess

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 47Orphanet, 9Disease Ontology, 11DISEASES, 20GeneTests, 22GTR, 60UMLS, 33MeSH, 55SNOMED-CT, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Apparent Mineralocorticoid Excess, Aliases & Descriptions:

Name: Apparent Mineralocorticoid Excess 45 10 41 47
Syndrome of Apparent Mineralocorticoid Excess 9 20 22
Apparent Mineralocorticoid Excess Syndrome 9 11
Cortisol 11-Beta-Ketoreductase Deficiency 41 60
11-Beta-Hydroxysteroid Dehydrogenase Deficiency Type 2 47
 
Mineralocorticoid Excess Syndrome, Apparent 60
Ulick Syndrome 47
Ame 1 41
Ame 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
apparent mineralocorticoid excess:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age


External Ids:

OMIM45 218030
Disease Ontology9 DOID:4367
MeSH33 D043204
Orphanet47 320
SNOMED-CT55 237770005
MESH via Orphanet34 C537422, D043204
ICD10 via Orphanet26 E26.1
UMLS via Orphanet61 C0342488, C2936861

Summaries for Apparent Mineralocorticoid Excess

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OMIM:45 Apparent mineralocorticoid excess (AME) is an autosomal recessive form of low-renin hypertension associated with low... (218030) more...

MalaCards based summary: Apparent Mineralocorticoid Excess, also known as syndrome of apparent mineralocorticoid excess, is related to pseudohypoaldosteronism and congenital adrenal hyperplasia, and has symptoms including autosomal recessive inheritance, hypertension and hypertensive retinopathy. An important gene associated with Apparent Mineralocorticoid Excess is HSD11B2 (hydroxysteroid (11-beta) dehydrogenase 2), and among its related pathways are Aldosterone-regulated sodium reabsorption and Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics. The compounds 11alpha-hydroxyprogesterone and Adrenosterone have been mentioned in the context of this disorder. Affiliated tissues include kidney, and related mouse phenotypes are adipose tissue and renal/urinary system.

Wikipedia:63 Apparent mineralocorticoid excess (AME) is an autosomal recessive disorder causing hypertension (high... more...

Related Diseases for Apparent Mineralocorticoid Excess

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Diseases related to Apparent Mineralocorticoid Excess via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 140)
idRelated DiseaseScoreTop Affiliating Genes
1pseudohypoaldosteronism30.7REN, NR3C2
2congenital adrenal hyperplasia30.6REN, NR3C1
3liddle syndrome30.4NR3C2, NR3C1, REN, HSD11B2
4chronic kidney failure30.1HSD11B2, NR3C2, REN
5colitis30.1HSD11B1, HSD11B2
6acromegaly29.9HSD11B2, HSD11B1
7osteoporosis29.7HSD11B1, HSD11B2, NR3C1
8myocardial infarction29.6NR3C2, REN, PIK3C2A
9obesity29.5NR3C1, HSD11B1, HSD11B2, NR3C2
10acute mountain sickness10.4
11prostatitis10.3
12amelogenesis imperfecta10.3
13nephrocalcinosis10.3
14pseudohypoaldosteronism, type iie10.2REN, NR3C2
15leukemia10.2
16conn's syndrome10.2REN, NR3C2
17cataract10.2
18dwarfism10.2
19renal fibrosis10.2NR3C2, REN
20adrenal gland hyperfunction10.1NR3C2, NR3C1
21myeloid leukemia10.1
22endotheliitis10.1
23hyperaldosteronism10.1NR3C2, REN, HSD11B2
24microvascular complications of diabetes 310.1NR3C2, HSD11B2, REN
25cushing's syndrome10.0HSD11B2, NR3C1, NR3C2
26nasopharyngeal carcinoma10.0
27peyronie's disease10.0
28arthritis10.0
29ulcerative colitis10.0
30rheumatic fever10.0
31dental pulp necrosis10.0
32nasopharyngitis10.0
33dental fluorosis10.0
34cerebritis10.0
35right bundle branch block10.0
36bursitis10.0
37childhood leukemia10.0
38corneal dystrophy10.0
39esophagitis10.0
40impotence10.0
41melanoma10.0
42retinitis10.0
43thyroiditis10.0
44turner syndrome10.0
45ablepharon macrostomia syndrome10.0
46atypical mole syndrome10.0
47fainting10.0
48blindness10.0
49aldosteronism, glucocorticoid-remediable10.0NR3C1, REN, NR3C2
50adrenal adenoma10.0HSD11B2, REN, HSD11B1

Graphical network of the top 20 diseases related to Apparent Mineralocorticoid Excess:



Diseases related to apparent mineralocorticoid excess

Symptoms for Apparent Mineralocorticoid Excess

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Symptoms by clinical synopsis from OMIM:

218030

Clinical features from OMIM:

218030

HPO human phenotypes related to Apparent Mineralocorticoid Excess:

(show all 12)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 hypertension HP:0000822
3 hypertensive retinopathy HP:0001095
4 failure to thrive HP:0001508
5 small for gestational age HP:0001518
6 hypokalemia HP:0002900
7 decreased circulating aldosterone level HP:0002924
8 decreased circulating renin level HP:0003351
9 variable expressivity HP:0003828
10 hypoaldosteronism HP:0004319
11 short stature HP:0004322
12 metabolic alkalosis HP:0200114

Drugs & Therapeutics for Apparent Mineralocorticoid Excess

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Drug clinical trials:

Search ClinicalTrials for Apparent Mineralocorticoid Excess

Search NIH Clinical Center for Apparent Mineralocorticoid Excess

Genetic Tests for Apparent Mineralocorticoid Excess

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Genetic tests related to Apparent Mineralocorticoid Excess:

id Genetic test Affiliating Genes
1 Apparent Mineralocorticoid Excess Syndrome20 HSD11B2
2 Apparent Mineralocorticoid Excess22

Anatomical Context for Apparent Mineralocorticoid Excess

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MalaCards organs/tissues related to Apparent Mineralocorticoid Excess:

31
Kidney

Animal Models for Apparent Mineralocorticoid Excess or affiliated genes

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MGI Mouse Phenotypes related to Apparent Mineralocorticoid Excess:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.8NR3C1, HSD11B1, PIK3C2A
2MP:00053678.3NR3C1, NR3C2, REN, HSD11B2, PIK3C2A
3MP:00053698.2HSD11B1, HSD11B2, REN, NR3C2, NR3C1
4MP:00053858.2HSD11B1, HSD11B2, REN, NR3C2, NR3C1
5MP:00053868.0HSD11B1, HSD11B2, REN, NR3C2, NR3C1
6MP:00053977.9NR3C1, NR3C2, REN, HSD11B1, PIK3C2A
7MP:00053767.7PIK3C2A, HSD11B1, HSD11B2, REN, NR3C2, NR3C1
8MP:00053787.6PIK3C2A, HSD11B1, REN, NR3C2, NR3C1

Publications for Apparent Mineralocorticoid Excess

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Articles related to Apparent Mineralocorticoid Excess:

(show all 43)
idTitleAuthorsYear
1
Apparent mineralocorticoid excess syndrome: report of one family with three affected children. (23329753)
2012
2
Apparent mineralocorticoid excess syndrome in a Brazilian boy caused by the homozygous missense mutation p.R186C in the HSD11B2 gene. (19169481)
2008
3
Impaired protein stability of 11beta-hydroxysteroid dehydrogenase type 2: a novel mechanism of apparent mineralocorticoid excess. (17314322)
2007
4
From gene to disease; 'apparent mineralocorticoid excess' syndrome, a syndrome with an apparent excess of mineral corticoids]. (17447595)
2007
5
Apparent mineralocorticoid excess: report of six new cases and extensive personal experience. (17035606)
2006
6
In vitro expression studies of a novel mutation delta299 in a patient affected with apparent mineralocorticoid excess. (15126515)
2004
7
Distinction between Liddle syndrome and apparent mineralocorticoid excess. (14625721)
2004
8
Molecular basis for the apparent mineralocorticoid excess syndrome in the Oman population. (15134813)
2004
9
Apparent mineralocorticoid excess syndrome: an overview. (15761540)
2004
10
Late-onset apparent mineralocorticoid excess caused by novel compound heterozygous mutations in the HSD11B2 gene. (12860834)
2003
11
The distinction between Liddle syndrome and apparent mineralocorticoid excess. (12759812)
2003
12
Two homozygous mutations in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess. (12788846)
2003
13
Congenital deficiency of 11beta-hydroxysteroid dehydrogenase (apparent mineralocorticoid excess syndrome): diagnostic value of urinary free cortisol and cortisone. (11227727)
2001
14
Apparent mineralocorticoid excess. (11306334)
2001
15
Syndrome of apparent mineralocorticoid excess caused by a deficiency of 11 beta-hydroxysteroid dehydrogenase: clinical and genetic study in a Chilean family followed for 19 years]. (10883518)
2000
16
Liquorice-induced sodium retention. Merely an acquired condition of apparent mineralocorticoid excess? A case report. (11202632)
2000
17
Hormonal hypertension in children: 11beta-hydroxylase deficiency and apparent mineralocorticoid excess. (11154148)
2000
18
Nephrocalcinosis and renal cysts associated with apparent mineralocorticoid excess syndrome. (11095013)
2000
19
Does kidney transplantation normalise cortisol metabolism in apparent mineralocorticoid excess syndrome? (11005270)
2000
20
Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess. (10536001)
1999
21
Genetic, biochemical, and clinical studies of patients with A328V or R213C mutations in 11betaHSD2 causing apparent mineralocorticoid excess. (10489390)
1999
22
Mutants of 11beta-hydroxysteroid dehydrogenase (11-HSD2) with partial activity: improved correlations between genotype and biochemical phenotype in apparent mineralocorticoid excess. (10523339)
1999
23
Examination of genotype and phenotype relationships in 14 patients with apparent mineralocorticoid excess. (9661590)
1998
24
The codon 213 of the 11beta-hydroxysteroid dehydrogenase type 2 gene is a hot spot for mutations in apparent mineralocorticoid excess. (9851783)
1998
25
Molecular basis for hypertension in the 'type II variant' of apparent mineralocorticoid excess. (9683587)
1998
26
A new compound heterozygous mutation in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess. (9398712)
1997
27
11 beta-Hydroxysteroid dehydrogenase and the syndrome of apparent mineralocorticoid excess. (9034789)
1997
28
A case of apparent mineralocorticoid excess caused by type 2 11 beta- hydroxysteroid dehydrogenase deficiency]. (9404418)
1997
29
Apparent mineralocorticoid excess in a Brazilian kindred: hypertension in the heterozygote state. (9431844)
1997
30
Apparent mineralocorticoid excess: genotype is correlated with biochemical phenotype. (8641723)
1996
31
Apparent mineralocorticoid excess: type I and type II. (8732999)
1996
32
Apparent mineralocorticoid excess due to 11 beta-hydroxysteroid dehydrogenase deficiency: a possible cause of intrauterine growth retardation. (8729536)
1996
33
Hypertension in the syndrome of apparent mineralocorticoid excess due to mutation of the 11 beta-hydroxysteroid dehydrogenase type 2 gene. (8538347)
1996
34
Point mutations abolish 11 beta-hydroxysteroid dehydrogenase type II activity in three families with the congenital syndrome of apparent mineralocorticoid excess. (8793850)
1996
35
Several homozygous mutations in the gene for 11 beta-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess. (7593417)
1995
36
Apparent mineralocorticoid excess, 11beta hydroxysteroid dehydrogenase and aldosterone action Closing one loop, opening another. (18406708)
1995
37
The R337C mutation generates a high Km 11 beta-hydroxysteroid dehydrogenase type II enzyme in a family with apparent mineralocorticoid excess. (7593456)
1995
38
A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess. (7608290)
1995
39
Apparent mineralocorticoid excess. (8575412)
1995
40
Defects in the HSD11 gene encoding 11 beta-hydroxysteroid dehydrogenase are not found in patients with apparent mineralocorticoid excess or 11-oxoreductase deficiency. (8370690)
1993
41
Investigation of the mechanism of hypertension in apparent mineralocorticoid excess. (8393954)
1993
42
Two uncommon causes of mineralocorticoid excess. Syndrome of apparent mineralocorticoid excess and glucocorticoid-remediable aldosteronism. (1879399)
1991
43
Apparent mineralocorticoid excess, pseudohypoaldosteronism, and urinary electrolyte excretion: toward a redefinition of mineralocorticoid action. (2172062)
1990

Variations for Apparent Mineralocorticoid Excess

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UniProtKB/Swiss-Prot genetic disease variations for Apparent Mineralocorticoid Excess:

62 (show all 14)
id Symbol AA change Variation ID SNP ID
1HSD11B2p.Arg208CysVAR_006958
2HSD11B2p.Arg213CysVAR_006959
3HSD11B2p.Leu179ArgVAR_015635
4HSD11B2p.Ser180PheVAR_015636
5HSD11B2p.Arg186CysVAR_015637
6HSD11B2p.Arg208HisVAR_015638
7HSD11B2p.Ala237ValVAR_015640
8HSD11B2p.Asp244AsnVAR_015641
9HSD11B2p.Leu250ArgVAR_015642
10HSD11B2p.Arg279CysVAR_015644
11HSD11B2p.Ala328ValVAR_015645
12HSD11B2p.Tyr338HisVAR_015646
13HSD11B2p.Asp223AsnVAR_066514
14HSD11B2p.Arg337CysVAR_066515

Clinvar genetic disease variations for Apparent Mineralocorticoid Excess:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1HSD11B2NM_000196.3(HSD11B2): c.622C> T (p.Arg208Cys)single nucleotide variantPathogenicrs121917780GRCh37Chr 16, 67470003: 67470003
2HSD11B2NM_000196.3(HSD11B2): c.637C> T (p.Arg213Cys)single nucleotide variantPathogenicrs28934591GRCh37Chr 16, 67470018: 67470018
3HSD11B2NM_000196.3(HSD11B2): c.1009C> T (p.Arg337Cys)single nucleotide variantPathogenicrs121917781GRCh37Chr 16, 67470697: 67470697
4HSD11B2NM_000196.3(HSD11B2): c.623G> A (p.Arg208His)single nucleotide variantPathogenicrs28934592GRCh37Chr 16, 67470004: 67470004
5HSD11B2NM_000196.3(HSD11B2): c.1010_1012delGCT (p.Arg337_Tyr338delinsHis)deletionPathogenicrs397509434GRCh37Chr 16, 67470698: 67470700
6HSD11B2NM_000196.3(HSD11B2): c.835C> T (p.Arg279Cys)single nucleotide variantPathogenicrs28934594GRCh37Chr 16, 67470523: 67470523
7HSD11B2NM_000196.3(HSD11B2): c.667G> A (p.Asp223Asn)single nucleotide variantPathogenicrs121917833GRCh37Chr 16, 67470154: 67470154
8HSD11B2HSD11B2, TYR299DELdeletionPathogenic
9HSD11B2HSD11B2, IVS3, C-T, +14single nucleotide variantPathogenic
10HSD11B2NM_000196.3(HSD11B2): c.1012T> C (p.Tyr338His)single nucleotide variantPathogenicrs387907117GRCh37Chr 16, 67470700: 67470700
11HSD11B2HSD11B2, 2-BP DELdeletionPathogenic

Expression for genes affiliated with Apparent Mineralocorticoid Excess

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Search GEO for disease gene expression data for Apparent Mineralocorticoid Excess.

Pathways for genes affiliated with Apparent Mineralocorticoid Excess

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Pathways related to Apparent Mineralocorticoid Excess according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6HSD11B2, NR3C2
2
Show member pathways
9.6REN, NR3C2
39.6HSD11B2, HSD11B1
4
Show member pathways
Nuclear Receptors36
9.4NR3C2, NR3C1
5
Show member pathways
Glucocorticoid andamp; Mineralcorticoid Metabolism36
8.8HSD17B6, HSD11B2, HSD11B1

Compounds for genes affiliated with Apparent Mineralocorticoid Excess

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Compounds related to Apparent Mineralocorticoid Excess according to GeneCards Suite gene sharing:

(show top 50)    (show all 91)
idCompoundScoreTop Affiliating Genes
111alpha-hydroxyprogesterone4310.0HSD11B2, NR3C2
2Adrenosterone249.9HSD11B2, HSD11B1
3tetrahydroaldosterone439.9NR3C2, REN
43a,21-Dihydroxy-5b-pregnane-11,20-dione249.8HSD11B2, HSD11B1
5Tetrahydrocorticosterone249.8HSD11B2, HSD11B1
611b-Hydroxyandrost-4-ene-3,17-dione249.7HSD11B1, HSD11B2
7potassium canrenoate439.7NR3C2, NR3C1
8hydrochlorothiazide43 28 49 24 1213.6HSD11B2, REN, NR3C2
9allotetrahydrocortisol439.5HSD11B1, NR3C2, HSD11B2
10tetrahydrocortisol43 2410.5HSD11B2, NR3C2, HSD11B1
11tetrahydrocortisone43 2410.5NR3C2, HSD11B2, HSD11B1
12zk11299328 4310.5NR3C1, NR3C2
133beta-hydroxysteroid439.4HSD11B1, NR3C2, HSD11B2
14fludrocortisone43 28 1211.4NR3C1, NR3C2, REN
15eplerenone43 59 28 1212.4NR3C2, NR3C1, REN
1611 deoxycortisol439.4NR3C1, NR3C2, REN
17cortisone acetate43 1210.4NR3C1, HSD11B2, HSD11B1
18fluticasone propionate43 49 59 1212.3NR3C2, HSD11B2, NR3C1
19metyrapone43 59 1211.2NR3C1, NR3C2, HSD11B1
20haloperidol43 49 28 2 1213.1NR3C2, PIK3C2A, REN
21androstenedione43 2410.1HSD11B2, REN, HSD11B1
22doca439.0NR3C1, REN, NR3C2, HSD11B2
23spironolactone43 59 28 49 1213.0NR3C1, NR3C2, REN, HSD11B2
24triiodothyronine439.0PIK3C2A, HSD11B1, NR3C2
25norepinephrine43 24 1211.0PIK3C2A, HSD11B2, REN, NR3C2
2611-dehydrocorticosterone43 249.9HSD11B2, NR3C1, NR3C2, HSD11B1
27cortisol28 249.9NR3C1, HSD11B1, HSD11B2, NR3C2
28cortisone43 249.9NR3C2, HSD11B2, HSD11B1, NR3C1
29dhea438.9NR3C1, HSD11B2, HSD11B1, NR3C2
30mifepristone43 28 59 1211.9HSD11B1, NR3C1, HSD11B2, NR3C2
31potassium43 24 1210.9NR3C2, REN, PIK3C2A, HSD11B2
32nad+438.8NR3C2, HSD11B2, HSD11B1
33nadh43 24 1210.6HSD17B6, NR3C2, HSD11B2, HSD11B1
34dihydrotestosterone43 28 24 1211.6HSD17B6, HSD11B2, NR3C2, NR3C1
35sodium43 249.6NR3C2, REN, HSD11B1, PIK3C2A, HSD11B2
36glycyrrhetinic acid43 249.5HSD11B1, NR3C1, NR3C2, REN, HSD11B2
37glycyrrhizin43 289.5HSD11B2, HSD11B1, NR3C2, NR3C1, REN
38carbenoxolone43 28 1210.5HSD11B2, REN, NR3C2, HSD11B1, NR3C1
3911beta-hydroxysteroid438.5REN, HSD11B2, HSD11B1, NR3C1, NR3C2
40cholesterol43 28 24 1211.5PIK3C2A, HSD11B1, REN, NR3C2, HSD11B2
41corticosterone43 59 2410.5HSD11B2, REN, NR3C2, HSD11B1, NR3C1
42hydrocortisone43 2 59 1211.5NR3C2, REN, HSD11B1, NR3C1, HSD11B2
43dexamethasone43 49 28 1211.4REN, HSD11B2, HSD11B1, NR3C2, NR3C1
44prednisolone43 28 1210.4NR3C1, HSD11B1, PIK3C2A, NR3C2, HSD11B2
45glucose438.4HSD11B1, REN, NR3C2, HSD11B2, PIK3C2A
46progesterone43 28 59 24 1212.3PIK3C2A, HSD11B2, NR3C2, NR3C1, HSD11B1
47acth438.0NR3C1, HSD11B1, HSD11B2, REN, NR3C2, PIK3C2A
48steroid438.0REN, HSD11B2, HSD11B1, PIK3C2A, NR3C1, NR3C2
49testosterone43 59 24 1210.9PIK3C2A, NR3C1, HSD11B1, HSD17B6, NR3C2
50estradiol43 24 129.2NR3C1, REN, NR3C2, HSD11B2, HSD17B6, HSD11B1

GO Terms for genes affiliated with Apparent Mineralocorticoid Excess

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Biological processes related to Apparent Mineralocorticoid Excess according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1glucocorticoid biosynthetic processGO:00067049.6HSD11B2, HSD11B1

Molecular functions related to Apparent Mineralocorticoid Excess according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
111-beta-hydroxysteroid dehydrogenase [NAD(P)] activityGO:00038459.6HSD11B2, HSD11B1
2steroid bindingGO:00054968.7NR3C1, NR3C2, HSD11B2

Products for genes affiliated with Apparent Mineralocorticoid Excess

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Sources for Apparent Mineralocorticoid Excess

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet